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TranscriptomicsTranscription profiling of different types of skeletal muscles from wild type and alpha tropomyosin transgenic slow mice to investigate the molecular mechanisms implicated in the mouse model of nemaline myopathy.
The aim of this study was to investigate the molecular mechanisms implicated in this mouse model of nemaline myopathy, and to further compare the molecular disease response in different skeletal muscles. For this purpose, snap frozen skeletla muscle specimens from wild type and transgenic for alpha ...
ORGANISM(S): Mus musculus 
2007-12-01 | E-GEOD-3384 | biostudies-arrayexpress
ProteomicsSarikaya_HistoryMyopathy_P124_OrbiElite
This dataset consists of 4 raw MS files, acquired on Orbitrap Elite mass spectrometer operated in Data Dependent Acquisition mode. Samples were generated by Ege Sarikaya. Sample processing was performed by Ege Sarikaya and Cassandra Wong. Mass spectrometry acquisition and data analysis was performe...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2022-07-07 | MSV000089844 | MassIVE
ProteomicsSarikaya_HistoryMyopathy_P124_6600
This dataset consists of 6 raw MS files, acquired on AB Sciex TripleTOF 6600 mass spectrometer operated in Data Dependent Acquisition mode. Samples were generated by Ege Sarikaya. Sample processing was performed by Ege Sarikaya and Cassandra Wong. Mass spectrometry acquisition and data analysis was...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2022-07-07 | MSV000089845 | MassIVE
GenomicGenetic Susceptibility to Statin-Induced Myopathy

Severe myopathic events occur in 0.1-0.5% of patients taking statins. Although genetic association studies have identified some possibly associated gene loci, these have not been reproducible in additional studies with independent patient cohorts. A more reasonable explanation for susceptibility ...

phs001342 | dbGaP
ProteomicsVolpatti_Myopathy_P124_Lumos_VS8
This dataset consists of 9 raw MS files, acquired on Orbitrap Fusion Lumos Tribrid mass spectrometer operated in Data Dependent Acquisition mode. Cells and lysates were generated by Jonathan Volpatti. Sample processing and mass spectrometry acquisition was performed by Cassandra Wong. Data analysis...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2022-07-12 | MSV000089872 | MassIVE
ProteomicsSarikaya_HistoryMyopathy_P124_Lumos
This dataset consists of 3 raw MS files, acquired on Orbitrap Fusion Lumos Tribrid mass spectrometer operated in Data Dependent Acquisition mode. Cells and lysates were generated by Jonathan Volpatti. Sample processing and mass spectrometry acquisition was performed by Cassandra Wong. Data analysis...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
2022-07-07 | MSV000089841 | MassIVE
TranscriptomicsComparative Genomic Hybridization: genomic control vs. Ullrich Congenital Muscular Dystrophy and Bethlem myopathy
Molecular characterization of collagen-VI related myopathies currently relies on standard sequencing, which yields a detection rate approximating 75-79% in Ullrich congenital muscular dystrophy (UCMD) and 60-65% in Bethlem myopathy (BM) patients as PCR-based techniques tend to miss gross genomic rea...
ORGANISM(S): Homo sapiens 
2010-01-27 | E-GEOD-20025 | biostudies-arrayexpress
GenomicsFOXK2 in Skeletal Muscle Development: A New Pathogenic Gene for Congenital Myopathy with Ptosis
FOXK2 in Skeletal Muscle Development: A New Pathogenic Gene for Congenital Myopathy with Ptosis
PRJNA1234572 | ENA
ProteomicsMitochondrial dysfunction in Nemaline myopathy type 6
Nemaline Myopathy type 6 (NEM6) is a congenital myopathy caused by variants in KBTBD13...
ORGANISM(S): Mus musculus (Mouse) 
2026-06-29 | PXD071917 | Pride
Skeletal muscle soleus mice 
ProteomicsFirst Clinical and Myopathological Description of a Myofibrillar Myopathy with Congenital Onset and Homozygous Mutation in FLNC
Filamin C (encoded by the FLNC gene) is a large actin-cross-linking protein involved in shaping the actin cytoskeleton in response to signaling events both at the sarcolemma and at myofibrillar Z-discs of cross-striated muscle cells. Multiple mutations in FLNC are associated with myofibrillar myopat...
ORGANISM(S): Homo sapiens (Human) 
2020-07-24 | PXD016657 | Pride
Filamin c  congenital myopathy  myofibrillar myopathy  flnc  proteomic signature  recessive inheritance 
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